Archive for the ‘Kids’ Category

Flooding Tears

I recently visited a local high school with a friend. Her son who has Down syndrome will be a student at this school next year. The transition to high school is a big one. She and her family have been working on this transition for years, fighting the status quo in our state, which is to keep kids with significant disabilities in special classes away from their non disabled peers.

Special classes for kids with disabilities are called self-contained classes. Self-contained as opposed to mingling about and switching teachers, classrooms, and subjects throughout the day. Typically these self-contained students stay in one classroom all day long and receive their instruction from one teacher with the help of several aides. Sometimes the students in these classes are allowed to go to elective classes or lunch with other kids. But for the most part, they are kept hidden away in private classrooms without any interaction with non disabled students.

My friend and I and several other friends of ours have been fighting against this status quo for years. We believe that our children should be educated right alongside peers who do not have disabilities. We believe that the positive peer pressure from being with these students and the friendships with these other students are life-giving and important. We believe that even if our children can’t demonstrate that they are learning everything the other students are learning, they deserve to be exposed to everything the other students are learning. The difference is literally as plain as our children still learning about the calendar and the weather and counting to 30 in high school instead of learning about the Periodic Table or the Cell Cycle. (Disclaimer: perhaps that is a simplified example, but it is true to what I have witnessed and heard about in Texas high schools)

So the other day while visiting this local high school, my friend and I stood talking in the entryway to the school, right outside of the front office. We stood in an active, busy thoroughfare of the main hallway of the school. We watched groups of students filing to lunch and to the library; then we watched students filing from lunch and on to class. The students, of course, came in waves as the passing periods came and went in the middle of the day. I love teenagers so I enjoyed watching them come and go, laughing or joking or cutting up as they went.

But then, surprisingly, when the hallway was quiet since it was not a main passing period, a group of about 8 or 10 students came parading by. A couple of them were holding hands with teachers and being led down the hall. It became clear that this was the special education class. The self-contained class. The kids with disabilities. The hall was empty except for these few students. They didn’t even pass paths with their typical peers during passing periods. They didn’t even see other kids on their way back from lunch. It was just them in the empty hallway.

My friend and I watched silently.

“Oh my gosh,” I finally whispered. It was as though I had been punched in the gut. I could not breathe as I watched them walk by.

And then the tears came. And they came hard.

Now, I am not a crier. I don’t cry. But here, in the entryway of this high school, I started crying. And I couldn’t stop. I think I mostly controlled my heaving breaths that were trying to escape my lungs as I tried to control my tears, but the tears certainly came.

It broke my heart. It made me angry. It made me sad.

And the emotions flooded.

This. This is why we fight. This is why we work so hard to get inclusion for our kids. This is why we help families. This is why we spread the word that inclusive education is important.

I was overwhelmed with the injustice of it all — the injustice that somehow these students were deemed unworthy to be learning with the other students. The realization that without loud, vocal, fighting mamas– this is exactly where our kids would be, separated from the rest of the world, parading down the hall with these students all the way to their private classroom, away from the other students and away from the rich learning taking place in those other classrooms.

And I realized that all the nights I complain about helping Chloe with her difficult homework from her 9th grade biology class or her Algebra I class, I should have been so thankful that she had the opportunity to learn biology and algebra instead of being ushered down the hall away from those subjects. All of those nights of hours of homework with her are worth it!

That hard World Geography semester review that had frustrated me the night before? I was suddenly so very thankful that Chloe and I were able to struggle through it. Because the alternative is no homework, no world geography, and no inclusion.

That parade of students showed me, reminded me, that everything we do and everything we’ve done has a purpose and it’s all worthwhile. All the fighting, all the work, all the rocking of the boat and questioning the norm has a purpose. We are fighting so that our children won’t be a part of that parade that passes by after all the other kids are in class. We are fighting so that our children can learn everything that the other kids are learning. We are fighting so that when a friend mentions their 3-D cell project or the Periodic Table, our children will know what the heck they’re talking about.

Yes, the tears came. And, yes, it was awkward and embarrassing. But the tears and the emotion were strong enough to remind me of the importance of our fight. The emotion reminded me why we speak up. And the emotion reminded me what we’re fighting for and what we’re fighting against.

I believe that my kids have the right to be educated right alongside the other kids. And I believe that ALL KIDS have the right to be educated right alongside the other kids.

I only wish I could help more students. I only wish I could convince more families to fight. I only wish I could stop that private and sad parade going down the hall while the rest of the world is off learning together.

Oh, how I want to change the world. Oh, how I want to change the status quo.

Advertisements

Happy Birthday!

As I recently explained, Chloe has become quite the party animal lately. Everything is a party. All day, everyday, party, party, party.

Another consistent thing in Chloe’s day is the birthday song. It pairs nicely with the whole party scene, don’t you think?

photo source: cliffordgarstang.com

Chloe has a couple of different apps on her ipad that play the birthday song. And the song has been on repeat for months. We sing happy birthday to all of her stuffed animals and all of her babies. We sing happy birthday to the cello, to the Christmas tree, and to the Walmart employee who brings our groceries out to the car. We sing happy birthday to singers who come on the radio, to our dog Flo, and to the sunshine.

There is a routine to the singing of the birthday song. Once the birthday object has been identified, Chloe plays the song on her ipad, we sing the birthday song, hug the lucky birthday object (if possible), and then we always tell him/her/it to have a fun party. It’s a very rigid birthday routine. The routine is greatly loved and very carefully carried out multiple times each day. If there happens to be something handy that can stand in as birthday candles, then we add blowing out the candles to the birthday song routine, too. Sometimes there are even gifts exchanged.

So fair warning, if you run into us somewhere, be prepared to be the birthday boy or girl! And guess what? You can play along with us and pretend it’s your birthday even if it really isn’t. And if you’re lucky, you might get some pretend candles to blow out and a birthday gift to enjoy for a couple of minutes. Don’t worry. Don’t get weirded out. Don’t feel awkward. Just let us celebrate you for a minute. You just might enjoy it. 🙂

Everything’s a Party!

Our girl has become a party girl. For the last six months or so, everything’s a party! Literally EVERYTHING’s a party.

In talking about her upcoming orchestra concert, it’s not a concert, it’s an instrument party. Her cheer practice is now a cheer party. Church is a worship party. School is a friend party. The Baylor football game is a football party. The halftime show is an instrument party. You get the idea.

One day when we were headed to the cemetery to take flowers to Papa’s grave, she named it a grave party and a flower party. While she sat there on his grave, she continued to proclaim it a party. A sweet memory, to be sure.

 

Literally everything is a party. Everyday, multiple times a day, there are parties left and right. You wouldn’t believe the parties you’ve been missing.

While her brothers at times find the multitudes of parties slightly annoying, the truth is, we can yet again learn something from our girl. Just think of the joy we would experience if we approached everything as a party! If we shared Chloe’s outlook and viewed everything as a party, we just might find ourselves enjoying even the mundane tasks in life.

Why do the laundry when you can instead go to a laundry party or a folding party? Don’t think of it as rush hour traffic; instead, call it a car party! Dreading fixing dinner? How about an ingredients party or a cooking party instead?

It’s not hard to catch on to the whole party scene. In no time at all, we, like Chloe, could become total party animals! And we just might find ourselves smiling with each step throughout the day.

Got any parties on your agenda this week? No? Hmmmmmm.

Well, pardon me for now while I head off to Walmart for a grocery party! 🙂

New Answers

Here’s the scoop in a nutshell: Chloe, who has never had a true diagnosis, finally has a diagnosis! It seems that she has a mutation in gene EBF3 which caused a genetic syndrome that involves developmental delay and other characteristics. It’s a brand new find in the world of genetics so there’s not much to know other than that. If you want the whole story in a long blog post, keep reading…and sorry for the spoiler. 😉 And, now, for the rest of the story:

 

IMG_3511Earlier this month, we got a very interesting phone call from Chloe’s geneticist.  It seems it was possibly the most interesting news from her in …about 15 years. 

Remember that Chloe remains undiagnosed. Early on, neurologists and geneticists could not agree if her issues were genetic or neurological. Finally everyone agreed that it was genetic, but still there was no diagnosis. Chloe continued to see her geneticist each year, and if there were any new tests that had been developed over the last 12 months, then she was sent for those tests. But each test came back normal or inconclusive. Eventually, her doctors started calling it Chloe Syndrome since there were no answers.

Several years ago, Chloe did a whole genome sequencing and microarray study when it was first developed. It was a very smart, very high tech, very exciting genetic test that held a lot of hope for answers. It was a way to look at the very ends of genes and chromosomes to see if there were any smaller deletions or mutations. It was very expensive and wasn’t often covered by insurance. Chloe’s doctors jumped through many hoops to get the genome sequencing set up. The sequencing included extensive studies of Chloe’s blood samples and Paul’s and my blood. And the results took months to come back. But, again, in the end, these reports showed no answers and no diagnosis. 

A side note here in case you don’t know about the world of genes… through the years, syndromes and diseases have been identified, and many of them can be seen in gene studies. When a doctor tests to see if a person has a specific syndrome, the lab can be pinpointed to look at that specific gene to look for a mutation or a deletion. Likewise, if a mutation is found in a particular gene, it will sometimes lead to a diagnosis if that gene is associated with a certain syndrome. However, sometimes, a mutation can be seen in a gene, but it doesn’t lead to diagnosis because that gene hasn’t been associated with any syndrome and/or that gene hasn’t been connected to any disease or dysfunction. So, while Chloe’s gene sequencing showed a few abnormalities, the abnormalities were not of note because those genes had not been identified as being pathogenic (disease-causing). 

Fast forward to our phone call. Chloe’s geneticist had just received in the mail a letter from Baylor Medicine saying they had revisited Chloe’s sequencing because of a couple of very new studies and discoveries, and they thought maybe they had found the gene responsible for Chloe’s issues. 

Wow. We (and her doctor) were shocked. It was honestly never expected to ever find the cause of Chloe’s medical issues. It was hoped, yes. But even at our recent appointment at the genetics clinic, the doctor again explained that we likely would never have any answers. 

The letter pointed to one of Chloe’s genetic mutations and mentioned some recent studies that had finally linked this particular gene with some similarities in a very small group of patients. After some research, we definitely agree that this newfound information sheds light on Chloe’s issues. The similarities in the patients identified very closely resembles Chloe’s health history; thus, we have found the cause of Chloe’s genetic syndrome.

Sooooooo… the culprit mentioned in the letter…. the culprit that is the root of all of Chloe’s issues is a slight mutation in Chloe’s EBF3 gene. Never heard of it? Well, that’s because until very recently, EBF3 was not linked to any change of function or cause of disease so it has not been talked about. Until now.

Again, while the variance in EBF3 showed up when they first ran her genome sequencing a few years ago, at that time it was inconsequential because that gene had not been recognized to have any pathogenic effect. However, now they have found some clinical similarities associated with that gene. 

There are a small handful of articles that have been published in the last year discussing several studies surrounding EBF3 and a small number of patients who have a mutation. In fact, one of the studies from October 2016 includes 10 patients…”subjects,” if you will. And while I was reading the study, I was surprised to realize that Chloe was actually Subject 8 in that study! The subjects are never named, but there were several tell-tale details that made it clear that it was Chloe. Pretty cool that our girl was involved in one of the very first studies of patients involving this particular gene! (The unanswered question is why didn’t they notify the families a year ago that they were making some advances with a diagnosis….)

Through these research studies, the researchers determine clinical similarities between subjects who have the mutation. And with these similarities, they form a list of characteristics that most people with a mutation in gene EBF3 exhibit.

According to the research studies, it seems that patients with EBF3 variance have the following issues:

  • Low/weak muscle tone (Hypotonia)
  • Developmental delay
  • Balance/gait issues (Ataxia)
  • Expressive language issues
  • Urinary tract issues/ namely vesicoureteral reflux
  • Strabismus (eye muscle issues)
  • Weak facial muscles (inability to smile)
  • Autism-like symptoms
  • Repetitive muscle movements 

Shall I go on??? 

Amazing, right? It’s an exact list of Chloe’s issues. There is literally nothing mentioned in the studies that doesn’t ring true with Chloe! She has additional medical issues that are not on their list. But the truth is, some of those will likely be added to the list as doctors and scientists perform more studies with a larger group of patients. 

So there you have it. EBF3. 

It looks like currently there are maybe 30 people identified as having a developmental disability because of a mutation in EBF3. And it has been tagged with the name HADDS: Hypotonia Ataxia Developmental Delay Syndrome. The oldest person that I’ve read about is 25, and then Chloe is maybe the next oldest. Of course, this will continue to change as more individuals are identified. The patients have varying degrees of the characteristics. Some walk; some don’t. Some talk; some don’t. At first glance, it appears that Chloe has a more severe mutation than some, but, again, that may change as more is discovered about this population. 

So we have an answer. After nearly 16 years we have an answer.

But literally nothing changes. Chloe’s still the same Chloe. There’s no cure for her syndrome. There’s no new treatment to start. We simply know the gene responsible. And we know that it was a spontaneous mutation — not passed from either parent; sometimes mutations just happen.

But just like that, our family became part of an exclusive “club” that before now had declined our membership. The club of diagnosis. The club of EBF3 mutation. The club of HADDS. Of course, the families in our particular club are at this point still scattered about wondering what to do with the new information. I started a blog specifically to find and unite families who search the web for EBF3. I plan to post on it fairly regularly to keep Google in the loop for anytime someone searches EBF3. I found a Facebook page for families of EBF3. There are only 3 or 4 people in the group — this is still very new, and we are a very small population. But it was exciting to exchange greetings and photos with those families. Who knows? Maybe we will plan some sort of HADDS convention or something and hang with those families just because we can.

And that’s all we have. Thoughts??

Articles if you want to know more:

Brave…Yes.

Two weeks post op, following a very invasive, major reconstruction surgery of Chloe’s little, skinny, stuck knees and hips, I have to say that I think her choice of theme song is absolutely appropriate and fitting.

I know she still has a long, difficult road ahead of her, but I’m so proud of her strength and determination. And, literally, all but about 4 minutes of the last 2 weeks, she has been steadfast and fearless. For about 4 short minutes, she was tempted to give in to the fear, exhaustion, and desperation…but, as usual, she quickly pulled it together right before my eyes and forced the fear and tired-ness away. She’s amazing, if I do say so myself.

So in recognition of 2 weeks post op, here again is the song she has chosen to be her anthem this summer as she fights to stand and walk. Enjoy and be encouraged and challenged. 🙂

True to Form

As you probably know, Chloe had a major surgery a week and a half ago. And as you also know, we were having some major second thoughts and cold feet in the days leading up to the surgery.

But there is something else to tell about the day before Chloe’s surgery that really helped me regain my focus and purpose for going ahead with surgery.

As I’ve already admitted, the day before surgery, as I was trying to pack and prepare for a week in the hospital, I was an emotional wreck. I had stopped to hide in my bathroom and cry my eyes out several times.

At one point, Zippy randomly pulled out a dvd from a photo shoot of the boys from years ago. In the background of the dvd is a beautiful instrumental song. And the dvd itself is fairly tear-jerking because of the beautiful quotes and sweet photos of my sweet little boys.

While Zippy and I were watching the dvd slideshow, unbeknownst to us, Chloe heard the beautiful music and began to make her way from her bedroom into the TV room to dance to the beautiful music.

I heard a bump in the hallway and turned to look. Chloe had stood up in the doorway of her bedroom and had WALKED, bent at the hips and bent at the knees, all the way down the hall, reaching straight out with both hands to help steady herself with the walls. She was STANDING in the doorway of the TV room and DANCING to the music.

image2-2

All of this while I was having my is-this-the-right-decision doubts and cry fests! There my girl was on her feet! Working hard, walking in her crouched down position all the way down the hall, reminding me that THIS is why we are doing this surgery! Walking is important to my girl. She wants to walk; she wants to dance. And THIS is WHY this major surgery journey was the right decision.

image3-2

Doubts? Goodbye.

Fears? Present, but understandable in the face of such a major surgery.

2nd thoughts? Nope. Knowing this surgery was the only way to keep Chloe on her feet made this decision a very clear cut one.

Chloe walking down the hall at just the perfect time? It was SO TRUE-to-FORM for her! Amazingly remarkable at just the right time.

image1-3

Thank you, Chloe — Thank you, God — for making it very clear.

Forward march!

Nearly Cancelled… Seriously

 


As Chloe’s surgery drew closer and closer, we all became more and more anxious about the process and the results. Chloe was feeling the stress. I was feeling the stress. Paul was feeling the stress. The boys were feeling the stress — but showing it and feeling it in completely unique ways.

Would the pain be too much?

Have we made the right decision?

Should we really be opting for this surgery for our girl?

Would there be complications?

A few days before surgery, Chloe came down with a cold or allergies or something. I thought maybe that was going to be our ticket off this scary train we were on. But the doctors still okayed her to have the surgery.

image

Anxiety became stress. Stress became fear. Fear became panic. This was a really big deal, and it was scary.

A few days before the surgery, at the doctor’s recommendation, I talked to a local mom whose son had a very similar surgery by the same surgeon. Hearing her talk about their experiences scared me to death. She was as nice as can be, and she was glad they had done the surgery. But her son’s story was filled with some complications and difficulties that just about scared me off.

I found a couple of blogs of parents of kids who had similar surgeries. The talk was the same: the first 3 days are absolutely terrible, unbearable. The rehab time is brutal.

This mama wanted to turn around and run. And run fast and far. I was filled with doubts and fears and began to panic.

Then, 2 days before surgery, Zippy’s asthma flared up. It was the worst his asthma has been in about 10 years. As the ambulance transported him downtown, I told myself that if he was admitted then I was calling the surgery off. It would be my sign. It would be my sign that the surgery wasn’t supposed to happen.

image

He was admitted for his asthma.  The ER doctors gave him tons of medicine, but his asthma was not responding to treatment. They put him on oxygen and even mentioned intubating him. And then they admitted him. Two days before surgery. In the same hospital where Chloe would have her surgery.

Was this it, then? Should I call and cancel the surgery?

Paul was shocked that I was even considering canceling. (But he hadn’t talked to that mama I had talked to! He hadn’t heard the stories!) He didn’t agree that Zippy’s being admitted should be my sign. He argued we should continue with surgery as planned because it would be a nightmare to re-think the timing of a different date. (And he was right. But it was hard to separate my fears at this point.)

So I reluctantly agreed to pack for the hospital after Zippy was discharged from the hospital….

The day before surgery, Mother’s Day, I was an emotional wreck. I cried hard several times. And I’m not a cryer. It hurt down deep thinking about what my girl was about to endure. It hurt my heart knowing that while Chloe understood the process pretty well and wanted to do it, the reality was she probably had no idea of the level of pain she was going to experience. I cried big and hard several times. I was terrified.

image

I kept going into Chloe’s room and looking at her beautiful legs. Her perfectly imperfect legs. I rubbed them and photographed them and kissed them and stared at them. After tomorrow, they would be forever different. This was the last day I would ever see those legs…. I was seriously a wreck.

But the day of surgery, I was back in my brave mama mode. I was up and ready and set for what was before us…for what was before my girl. My emotions were definitely right on the surface and could’ve burst forth at any moment for most of the day, but for the most part I was set and ready. Once while waiting for the doctor to come for surgery, I caught a glimpse  of her little skinny knees and nearly lost it. But I quickly pulled it together.

image

Then the doctor came, we said, “See ya later,” and “I love you,” to Chloe, and they wheeled that precious gift with those skinny little stuck knees right out of the room and down the hall to surgery.

image

Yeah. It was a biggie. And we felt it.

%d bloggers like this: